Varaico: Literature-Extracted Genetic Variants

Gene:SMAD6
Variant:p.H265Y
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SMAD6

NM_005585.5:p.H265Y

Associated Papers

Clinical interest of molecular study in cases of isolated midline craniosynostosis.

Di Rocco F et al.

European Journal of Human Genetics : Ejhg, 2023

SMAD6-deficiency in human genetic disorders.

Luyckx I et al.

Npj Genomic Medicine, 2022

36414630 (PubMed )
Supplement: 41525_2022_338_MOESM2_ESM.xlsx › Suppl_Table1

A genotype and phenotype analysis of SMAD6 mutant patients with radioulnar synostosis.

Shen F et al.

Molecular Genetics & Genomic Medicine, 2022

Impact of SMAD6 Variants on Neurodevelopment in Craniosynostosis.

Verlut I et al.

The Journal of Craniofacial Surgery, 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."